Skeletal dysplasia
Gene: ETF1

ETF1 (eukaryotic translation termination factor 1)
EnsemblGeneIds (GRCh38): ENSG00000120705
EnsemblGeneIds (GRCh37): ENSG00000120705
OMIM: 600285, Gene2Phenotype
ETF1 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No direct evidence for involvement in human disease
Created: 28 Jul 2016, 11:16 a.m.

Created: 28 Jul 2016, 11:16 a.m.

Panel version: 0.860

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
Unknown

Phenotypes
Park SJ. Fibroblast growth factor 2-induced cytoplasmic asparaginyl-tRNA synthetase promotes survival of osteoblasts by regulating anti-apoptotic PI3K/Akt signaling. Bone. 2009 Nov' 45(5):994-1003.

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red

OMIM

600285

Clinvar variants

Variants in ETF1

Penetrance

Complete

Publications

19631775

Panels with this gene

Skeletal dysplasia